The kidney works to maintain fluid, electrolyte and acid-base balance by eliminating nitrogenous and other metabolic waste products from the body through the urinary system. Another key function of the kidney is to help maintain blood pressure, produce erythropoietin and activate vitamin D. The proper functioning of the kidney is impaired when there is loss of nephrons. The nephron is the functional unit of the kidney. When normal kidney function is greatly impaired, then dialysis becomes necessary. Continue reading
Relation to other rare genetic disorders
Recent findings in genetic research have suggested that a large number of genetic disorders, both genetic syndromes and genetic diseases, that were not previously identified in the medical literature as related, may be, in fact, highly related in the genetypical root cause of the widely-varying, phenotypically-observed disorders. Thus, PKD is a ciliopathy. Other known ciliopathies include primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic liver disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration. Continue reading
Polycystic kidney disease is a kidney disorder passed down through families in which many cysts form in the kidneys, causing them to become enlarged. Continue reading
Angiomyolipoma (AML) is the most common benign tumour of the kidney and are composed of blood vessels, smooth muscle cells and fat cells. Angiomyolipoma are strongly associated with the genetic disease tuberous sclerosis, in which most individuals will have several angiomyolipoma affecting both kidneys. They are also commonly found in women with the rare lung disease lymphangioleiomyomatosis. Angiomyolipoma are less commonly found in the liver and rarely in other organs. Whether associated with these diseases or sporadic, angiomyolipoma are caused by mutations in either the TSC1 or TSC2 genes, which govern cell growth and proliferation. Continue reading
Nephrogenic fibrosing dermpathy is known to be a rare medical condition that manifests as swollen and tightened skin. It became evident in kidney patients in year 1997. It is apparently a disease that affects the integumentary system. But there is evidence that nephrogenic systemic fibrosis or the untoward fibrosis of internal organs also occurs.
It is already a known fact that more and more people develop elevated blood pressure or hypertension at any given age already. This is a saddening condition that is faced by so many individuals, families, and institutions every single day.
Kidney stones or renal lithiasis are little, solid deposits that produce inside the kidneys.Â Acid salts and minerals are what kidney stones made of.Â Kidney stones develop when the urine turn out to be concentrated letting the minerals to crystallize and attach together.Â The passing of kidney stones may cause severe pain that usually begin in the side or back beneath the ribs and progress to the lower part of abdomen and groin.Â The discomfort may alter as the kidney stone may travel throughout the urinary tract Continue reading